ClinVar

NM_000531.6(OTC):c.620G>A (p.Ser207Asn)

Gene:

OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38403697 (on Assembly GRCh38)
• ChrX: 38262950 (on Assembly GRCh37)

Preferred name:

NM_000531.6(OTC):c.620G>A (p.Ser207Asn)

HGVS:

• NC_000023.11:g.38403697G>A
• NG_008471.1:g.56215G>A
• NM_000531.6:c.620G>AMANE SELECT
• NP_000522.3:p.Ser207Asn
• LRG_846t1:c.620G>A
• LRG_846:g.56215G>A
• LRG_846p1:p.Ser207Asn
• NC_000023.10:g.38262950G>A
• NM_000531.5:c.620G>A

This HGVS expression did not pass validation

Protein change:

S207N

Links:

dbSNP: rs72558414

NCBI 1000 Genomes Browser:

rs72558414

Molecular consequence:

• NM_000531.6:c.620G>A - missense variant - [Sequence Ontology: SO:0001583]